ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val)

gnomAD frequency: 0.00046  dbSNP: rs150328852
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194029 SCV000247753 likely benign not specified 2015-03-31 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000194029 SCV000297064 uncertain significance not specified 2015-08-19 criteria provided, single submitter clinical testing
Invitae RCV001495318 SCV001699998 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001495318 SCV001909185 benign not provided 2021-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001495318 SCV002585354 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing KMT2A: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003927785 SCV004740105 likely benign KMT2A-related disorder 2022-10-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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